Associated Papers
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S2.xlsx › Supplementary_Table_2
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.
Teekakirikul P et al.
Cell Reports. Medicine, 2022
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Simonetti G et al.
Leukemia, 2021
34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.
Kambouris M et al.
Orphanet Journal of Rare Diseases, 2014
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